Canonical Allele Identifier: CA796557886
Gene: IGFBP7 HGNC NCBI

Linked Data

dbSNP Id: rs1453576807
gnomAD v3: 4-57047083-T-A
gnomAD v4: 4-57047083-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.57047083T>A , CM000666.2:g.57047083T>A GRCh38
NC_000004.11:g.57913249T>A , CM000666.1:g.57913249T>A GRCh37
NC_000004.10:g.57608006T>A NCBI36
NG_031877.1:g.68303A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295666.6:c.476-6150A>T MANE Select ENSP00000295666.4:n.476-6150A>T
ENST00000512512.3:n.116-6150A>T
ENST00000514062.2:c.476-6150A>T ENSP00000486293.1:n.476-6150A>T
NM_001253835.1:c.476-6150A>T NP_001240764.1:n.476-6150A>T
NM_001553.2:c.476-6150A>T NP_001544.1:n.476-6150A>T
NM_001553.3:c.476-6150A>T MANE Select NP_001544.1:n.476-6150A>T
NM_001253835.2:c.476-6150A>T NP_001240764.1:n.476-6150A>T